Aliases for SNTA1 Gene
External Ids for SNTA1 Gene
Previous HGNC Symbols for SNTA1 Gene
Previous GeneCards Identifiers for SNTA1 Gene
Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]
GeneCards Summary for SNTA1 Gene
SNTA1 (Syntrophin Alpha 1) is a Protein Coding gene. Diseases associated with SNTA1 include Long Qt Syndrome 12 and Long Qt Syndrome 1. Among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex and NGF Pathway. GO annotations related to this gene include actin binding and PDZ domain binding. An important paralog of this gene is SNTB1.
UniProtKB/Swiss-Prot for SNTA1 Gene
Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5-bisphosphate (By similarity).